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FLASH GENE
Symbol CTNS contributors: mct - updated : 17-11-2012
HGNC name cystinosin, lysosomal cystine transporter
HGNC id 2518
Corresponding disease
CLOJ cystinosis, late-onset juvenile or adolescent nephropathic type
CONP cystinosis, adult nonnephropathic
CTNS cystinosis, infantile, nephropathic
Location 17p13.3      Physical location : 3.539.761 - 3.566.396
Synonym name
  • cystinosin
  • Synonym symbol(s) CTNS-LSB, PQLC4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 26.64 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    text structure SP1 binding site arranged in tandem with CARKL
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 4042 44 400 - Gao
    12 splicing 4431 41 367 - Gao
    11 - - - - . expressed in the plasma membrane, in lysosomes, and in other cytosolic structures, in the endoplasmic reticulum and in the Golgi apparatus . in renal tubular structures 2008 18337546
  • alternative splicing of exon 12 that removes the GYDQL motif
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveliver   moderately
    Endocrineneuroendocrinepituitary  highly
    Nervousnervecranial nerve  highly
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin appendageshair    Homo sapiens
    Urinarykidneytubuleconvoluted tubule  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, brain, kidney, liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an intraluminal N terminal uncleavable peptide signal
  • seven transmembrane segments
  • a strong positive charge near the C terminus
  • two signals targeting the protein to the lysosomal compartment, one of which is located at the C-terminal tail (GYDQL)
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus Ctns (83.3pc)
    ortholog to murine Ctns (83.9pc)
    ortholog to yeast Ers1
    Homologene
    FAMILY cystinosin family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • involved in cystine transport across the lysosomal membrane
  • actively regulated at the transcriptional and posttranscriptional level, suggesting that CTNS plays a pivotal role in regulating cell thiol concentrations
  • cystine/H(+) symporter that exports cystine out of the lysosomes
  • role of CTNS in melanogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text transport cystine out of lysosomes
    PATHWAY
    metabolism aminoacid
    signaling
  • HT driven transporter responsible for cystine export from lysosomes
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CTNS , CLOJ , CONP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    led to a 75p100 reduction of melanin synthesis that was caused by a degradation of tyrosinase by lysosomal proteases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cystinosin-deficient mice showed a 4-fold increase in hair pheomelanin content
  • measurement of CVI (crystal volume index) in the Ctns(-/-) mouse may be used as a model to develop novel therapeutic strategies for treating corneal cystinosis